# congenital bile acid synthesis defect 4

> human disease

**Wikidata**: [Q42863600](https://www.wikidata.org/wiki/Q42863600)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-4


## References

1. Disease Ontology
2. Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy
3. Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000242110/Orphanet_79095)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023